KEGG DISEASE: VEXAS syndrome

KEGG

DISEASE: VEXAS syndrome

Entry

H02971                      Disease

Name

VEXAS syndrome

Description

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe adult-onset autoinflammatory disease with rheumatologic and hematologic features. It has been reported that somatic mutations in UBA1 cause this syndrome. UBA1 encodes the major E1-activating enzyme required for initiation of all cellular ubiquitin signaling.

Category

Immune system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H02971  VEXAS syndrome

Gene

UBA1 [HSA:7317] [KO:K03178]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Arlet JB, Terrier B, Kosmider O

Title

Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease.

Journal

N Engl J Med 384:2163 (2021)
DOI:10.1056/NEJMc2102124

Reference

Authors

Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR

Title

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.

Journal

JAMA 329:318-324 (2023)
DOI:10.1001/jama.2022.24836

LinkDB

» Japanese version

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